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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CUL1, CUX1
+4737 more
Copy number loss
See cases
GPathogenic
LOC123956257, LOC123956258
+2213 more
Copy number gain
See cases
GPathogenic
AASS, ABCB8
+1547 more
Copy number gain
See cases
GPathogenic
AASS, ABCB8
+1380 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1176 more
Copy number gain
See cases
GPathogenic
PRKAG2, PRKAG2-AS1
+1052 more
Copy number gain
See cases
GPathogenic
LOC129389895, LOC129389896
+1046 more
Copy number gain
See cases
GPathogenic
TRBV27, TRBV28
+1025 more
Copy number gain
See cases
GPathogenic
OR2A2, OR2A25
+1025 more
Copy number gain
See cases
GPathogenic
TRC-GCA9-3, TRC-GCA9-4
+1019 more
Copy number gain
See cases
GPathogenic
LOC129999635, LOC129999636
+944 more
Copy number loss
See cases
GPathogenic
TRBC2, TRBD1
+455 more
Copy number loss
See cases
GPathogenic
ADCK2, AGK
+373 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+908 more
Copy number gain
See cases
GPathogenic
EPHA1-AS1, EPHB6
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
ABCB8, ABCF2
+692 more
Copy number gain
See cases
GPathogenic
LOC129999716, LOC129999717
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
TRBC1, TRBC2
+230 more
Copy number gain
See cases
GUncertain significance
ABCB8, ABCF2
+737 more
Copy number loss
See cases
GPathogenic
AGK, AGK-DT
+192 more
Copy number gain
See cases
GPathogenic
LOC129999721, LOC129999722
+707 more
Copy number loss
See cases
GPathogenic
ARHGEF35, ARHGEF35-AS1
+110 more
Copy number loss
See cases
GPathogenic
CTAGE15, CTAGE6
+19 more
Copy number gain
See cases
GLikely benign
ACTR3C, ARHGEF35
+172 more
Copy number gain
See cases
GLikely pathogenic
CTAGE6, LOC129389908
+16 more
Copy number loss
See cases
Gconflicting data from submitters
ARHGEF35, ARHGEF35-AS1
+20 more
Copy number gain
See cases
GUncertain significance
CTAGE6, LOC129389908
+15 more
Copy number gain
See cases
GBenign
ARHGEF35, ARHGEF35-AS1
+20 more
Copy number gain
See cases
GBenign
CTAGE6, LOC129389908
+15 more
Copy number gain
See cases
GLikely benign
ARHGEF35, ARHGEF35-AS1
+27 more
Copy number gain
See cases
GLikely benign
LOC129999681, LOC129999682
+573 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+358 more
Copy number loss
See cases
GPathogenic
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